Incidental Mutation 'IGL00091:C130050O18Rik'
ID1607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C130050O18Rik
Ensembl Gene ENSMUSG00000044092
Gene NameRIKEN cDNA C130050O18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL00091
Quality Score
Status
Chromosome5
Chromosomal Location139405280-139415623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 139414846 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 218 (E218G)
Ref Sequence ENSEMBL: ENSMUSP00000127769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052176] [ENSMUST00000066052] [ENSMUST00000163940] [ENSMUST00000164078] [ENSMUST00000198474]
Predicted Effect probably damaging
Transcript: ENSMUST00000052176
AA Change: E218G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055600
Gene: ENSMUSG00000044092
AA Change: E218G

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
transmembrane domain 100 119 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
transmembrane domain 173 195 N/A INTRINSIC
transmembrane domain 222 244 N/A INTRINSIC
transmembrane domain 259 281 N/A INTRINSIC
low complexity region 320 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066052
SMART Domains Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 103 165 3e-26 PFAM
low complexity region 184 194 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163940
AA Change: E218G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127769
Gene: ENSMUSG00000044092
AA Change: E218G

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
transmembrane domain 100 119 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
transmembrane domain 173 195 N/A INTRINSIC
transmembrane domain 222 244 N/A INTRINSIC
transmembrane domain 259 281 N/A INTRINSIC
low complexity region 320 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197512
Predicted Effect probably benign
Transcript: ENSMUST00000198474
SMART Domains Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 102 141 9e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,883,428 Y400F probably benign Het
Adamts8 C A 9: 30,953,500 T429K probably damaging Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ano7 A T 1: 93,402,166 H775L probably benign Het
Apoo-ps A T 13: 107,414,634 noncoding transcript Het
Arid2 T C 15: 96,372,302 V1432A probably benign Het
Atoh1 T C 6: 64,729,584 S88P possibly damaging Het
Cacna2d1 T A 5: 16,212,944 F155L probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cyp1a2 G T 9: 57,682,069 S154* probably null Het
Cyp3a25 A T 5: 146,001,463 Y68* probably null Het
Dmbt1 C A 7: 131,079,540 probably benign Het
Dnajc22 T A 15: 99,101,178 F81L possibly damaging Het
Eml5 G A 12: 98,873,209 probably benign Het
Fpgs A T 2: 32,686,547 probably benign Het
Gab2 T C 7: 97,302,443 S537P possibly damaging Het
Gmds G A 13: 32,234,390 S37L probably damaging Het
Ipo13 T C 4: 117,903,405 E626G probably benign Het
Kcng1 T C 2: 168,268,764 H160R probably benign Het
Lama3 A G 18: 12,580,292 T1608A probably benign Het
Lama4 A C 10: 39,072,805 S855R probably damaging Het
Ltbp1 C T 17: 75,225,338 H454Y probably damaging Het
Map3k14 C A 11: 103,227,579 G594C probably damaging Het
Mcph1 A G 8: 18,632,620 N591S possibly damaging Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Mptx2 T G 1: 173,274,888 N78T probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Nup50 T A 15: 84,935,404 F293Y probably benign Het
Ogn A G 13: 49,621,038 Y219C probably damaging Het
Pdia3 T C 2: 121,414,178 L47P probably damaging Het
Piwil4 A T 9: 14,703,097 D786E probably damaging Het
Pspc1 A G 14: 56,771,711 L222P probably damaging Het
Ptchd3 T A 11: 121,831,146 Y282N probably damaging Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpini2 T C 3: 75,249,242 Y327C probably damaging Het
Spire2 A G 8: 123,354,059 D14G probably damaging Het
Stab2 A T 10: 86,869,206 probably null Het
Timeless T C 10: 128,241,708 L219P probably damaging Het
Tmem63a C T 1: 180,963,088 T437M probably damaging Het
Tslp A G 18: 32,815,395 probably benign Het
Ttbk2 C A 2: 120,748,833 G534* probably null Het
Uggt1 T C 1: 36,179,552 probably benign Het
Vmn2r118 T C 17: 55,592,708 E732G probably damaging Het
Zfhx2 G A 14: 55,066,565 P1321S possibly damaging Het
Zfp58 A G 13: 67,490,995 V459A probably benign Het
Zfp831 T C 2: 174,645,658 S709P possibly damaging Het
Other mutations in C130050O18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:C130050O18Rik APN 5 139414738 missense probably damaging 1.00
IGL03108:C130050O18Rik APN 5 139415065 missense probably damaging 1.00
R0316:C130050O18Rik UTSW 5 139414558 missense probably damaging 1.00
R1635:C130050O18Rik UTSW 5 139414493 missense probably benign 0.02
R4912:C130050O18Rik UTSW 5 139414389 missense probably benign 0.17
R6299:C130050O18Rik UTSW 5 139414371 missense probably damaging 1.00
R7203:C130050O18Rik UTSW 5 139414374 missense probably benign 0.13
R7310:C130050O18Rik UTSW 5 139415238 missense probably benign 0.00
R7990:C130050O18Rik UTSW 5 139414917 missense probably benign 0.05
Posted On2011-07-12